A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4241977



Internal ID20438816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:54027964..54030893hg38UCSC Ensembl
chr16:54061876..54064805hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg382930
hg192930
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15831161
Samples
Known GenesFTO
MethodSequencing
AnalysisSV calls were generated using multi-algorithm consensus pipeline involving raw evidence assessment, filtering, clustering, genotyping, alternative allele structure resolution, and gene annotation. These methods are described in detail in the gnomAD-SV preprint [Collins*, Brand*, et al., bioRxiv (2019)|https://www.biorxiv.org/content/10.1101/578674v1], and are largely based on methods developed in [Werling et al., Nat. Genet. (2018)|https://www.ncbi.nlm.nih.gov/pubmed/29700473].
Platform
Comments
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)nsv4241977
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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